What is benign familial macrocephaly?
What causes macrocephaly? Causes of macrocephaly range from benign (harmless) to severe. If your child has benign familial macrocephaly, they simply have a larger-than-normal-sized head. Their larger head size is inherited and is similar to the head size of another family member.
What does macrocephaly mean?
Macrocephaly refers to a head circumference (the measurement around the widest part of the head) that is greater than the 98th percentile on the growth chart. Primary care physicians may refer to the pediatric neurosurgeon based on your child’s increasing head circumference.
How is macrocephaly diagnosed?
Macrocephaly
- Macrocephaly can be normal or caused by genetic disorders or other disorders.
- Diagnosis is made before birth through routine ultrasound tests or after birth by measuring the head circumference.
- Doctors usually do imaging tests to look for brain abnormalities and sometimes blood tests to look for a cause.
What is Alexander disease?
In Alexander disease, the destruction of white matter is accompanied by the formation of Rosenthal fibers–abnormal clumps of protein that accumulate in non-nerve cells (astrocytes) in the brain. The most common type of Alexander disease is the infantile form that usually begins during the first two years of life.
What causes sunset eyes?
The “setting sun” sign is an ophthalmologic phe- nomenon where the eyes appear driven downward bilaterally. The inferior border of the pupil is often covered by the lower eyelid, creating the “sunset” appearance. This finding is classically associated with hydrocephalus in infants and children.
What syndrome causes a big head?
Benign familial macrocephaly is an inherited condition. It happens in families predisposed to having larger heads. Sometimes there is a problem with the brain, such as hydrocephalus or excess fluid. Underlying conditions will require treatment.
How is Canavan diagnosed?
Canavan disease can be identified by a simple prenatal blood test that screens for the missing enzyme or for mutations in the gene that controls aspartoacylase. Both parents must be carriers of the defective gene in order to have an affected child.
What body systems are affected by Canavan disease?
Summary. Canavan disease is a progressive, fatal, genetic disorder affecting the central nervous system, muscles, and eyes. Early symptoms in infancy may include increased head size, weakness, low muscle tone and loss of head control.
What is Acrocallosal syndrome?
Acrocallosal syndrome is a rare condition characterized by a brain abnormality called agenesis of the corpus callosum, the presence of extra fingers and toes (polydactyly), and distinctive facial features.
What is parinaud’s syndrome?
Disorders of the Eyes and Eyelids The dorsal midbrain (Parinaud’s) syndrome is characterized by a supranuclear vertical gaze paresis (upward more than downward), lid retraction, convergence-retraction nystagmus, pupillary light-near dissociation, and pseudoabduction deficits caused by excessive convergence tone.